Canonical Allele Identifier: CA6910357

Gene: SACS

Linked Data

• ClinVar Variation Id: 1115096
• ClinVar RCV Id: RCV001442995
• dbSNP Id: rs760466234
• ExAC: 13:23907034 C / T
• gnomAD v2: 13-23907034-C-T
• gnomAD v3: 13-23332895-C-T
• gnomAD v4: 13-23332895-C-T
• MyVariant Identifiers: chr13:g.23907034C>T (hg19) ; chr13:g.23332895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332895C>T , CM000675.2:g.23332895C>T	GRCh38
NC_000013.10:g.23907034C>T , CM000675.1:g.23907034C>T	GRCh37
NC_000013.9:g.22805034C>T	NCBI36
NG_012342.1:g.105808G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-20780G>A	ENSP00000508399.1:n.2186-20780G>A
ENST00000682944.1:c.11008G>A	ENSP00000507173.1:p.Ala3670Thr
ENST00000683210.1:c.2185+20890G>A	ENSP00000506739.1:n.2185+20890G>A
ENST00000683270.1:c.6446-3411G>A	ENSP00000507624.1:n.6446-3411G>A
ENST00000683367.1:c.2177-3411G>A	ENSP00000507780.1:n.2177-3411G>A
ENST00000683489.1:c.2292-2943G>A	ENSP00000508403.1:n.2292-2943G>A
ENST00000683680.1:c.2319-2943G>A	ENSP00000507223.1:n.2319-2943G>A
ENST00000684163.1:c.2204-3411G>A	ENSP00000508262.1:n.2204-3411G>A
ENST00000684196.1:n.4543-3411G>A
ENST00000684325.1:c.2186-11221G>A	ENSP00000508121.1:n.2186-11221G>A
ENST00000684385.1:c.2221-3411G>A	ENSP00000507855.1:n.2221-3411G>A
ENST00000684497.1:c.2186-10251G>A	ENSP00000507057.1:n.2186-10251G>A
ENST00000382292.9:c.10981G>A MANE Select	ENSP00000371729.3:p.Ala3661Thr
ENST00000423156.2:c.2186-3411G>A	ENSP00000390925.2:n.2186-3411G>A
ENST00000455470.6:c.2432-3411G>A	ENSP00000406565.2:n.2432-3411G>A
ENST00000382292.7:c.10981G>A	ENSP00000371729.3:p.Ala3661Thr
ENST00000382298.7:c.10981G>A	ENSP00000371735.3:p.Ala3661Thr
ENST00000402364.1:c.8731G>A	ENSP00000385844.1:p.Ala2911Thr
ENST00000423156.1:c.1058-3411G>A	ENSP00000390925.1:n.1058-3411G>A
ENST00000455470.5:c.2130-3411G>A
NM_001278055.1:c.10540G>A	NP_001264984.1:p.Ala3514Thr
NM_014363.5:c.10981G>A	NP_055178.3:p.Ala3661Thr
XM_005266338.1:c.11008G>A	XP_005266395.1:p.Ala3670Thr
XM_011535038.1:c.11032G>A	XP_011533340.1:p.Ala3678Thr
XM_011535039.1:c.10999G>A	XP_011533341.1:p.Ala3667Thr
XM_005266338.2:c.11008G>A	XP_005266395.1:p.Ala3670Thr
XM_011535039.2:c.10999G>A	XP_011533341.1:p.Ala3667Thr
XM_017020539.1:c.10972G>A	XP_016876028.1:p.Ala3658Thr
XM_024449337.1:c.11008G>A	XP_024305105.1:p.Ala3670Thr
NM_014363.6:c.10981G>A MANE Select	NP_055178.3:p.Ala3661Thr
NM_001278055.2:c.10540G>A	NP_001264984.1:p.Ala3514Thr